Mutagenetix > Incidental Mutation

Incidental Mutation 'R7278:C8b'

571530

Institutional Source

Beutler Lab

Gene Symbol

C8b

Ensembl Gene

ENSMUSG00000029656

Gene Name

complement component 8, beta polypeptide

Synonyms

4930439B20Rik

MMRRC Submission

045360-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7278 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104623514-104661745 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104637824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 99 (C99R)

Ref Sequence

ENSEMBL: ENSMUSP00000031663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031663] [ENSMUST00000065072]

AlphaFold

Q8BH35

Predicted Effect

probably damaging
Transcript: ENSMUST00000031663
AA Change: C99R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031663
Gene: ENSMUSG00000029656
AA Change: C99R

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
TSP1	66	116	3.17e-7	SMART
LDLa	120	156	1.78e-10	SMART
MACPF	290	497	3.6e-65	SMART
Blast:EGF	501	534	9e-12	BLAST
TSP1	547	584	1.17e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000065072
AA Change: C99R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066940
Gene: ENSMUSG00000029656
AA Change: C99R

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
TSP1	66	116	3.17e-7	SMART
LDLa	120	156	1.78e-10	SMART
MACPF	224	431	3.6e-65	SMART
Blast:EGF	435	468	1e-11	BLAST
TSP1	481	518	1.17e-1	SMART

Meta Mutation Damage Score

0.7866

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (78/79)

MGI Phenotype

FUNCTION: This gene encodes the beta subunit of complement component C8 that participates in the assembly of the complement membrane attack complex. The encoded preproprotein undergoes proteolytic processing to generate the beta subunit, which associates with the alpha and gamma subunits to form a trimeric complement component, C8. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. This gene is located adjacent to the gene encoding the alpha subunit. [provided by RefSeq, Oct 2015]
PHENOTYPE: In a controlled microbial environment ("clean") laboratory, mice homozygous for an inactivating mutation of this gene are viable and fertile and exhibit no apparent abonormal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,771,237 (GRCm39)	L142P	probably benign	Het
Abca13	A	T	11: 9,241,126 (GRCm39)	R996S	possibly damaging	Het
Abcb6	A	G	1: 75,151,017 (GRCm39)	F558L	possibly damaging	Het
Acp7	T	A	7: 28,330,307 (GRCm39)	D2V	unknown	Het
Acvr1c	T	C	2: 58,174,948 (GRCm39)	D280G	probably damaging	Het
Atp8a1	A	G	5: 67,781,380 (GRCm39)	S1124P		Het
B4galnt1	A	T	10: 127,003,657 (GRCm39)	T207S	probably benign	Het
C2cd4d	C	A	3: 94,271,445 (GRCm39)	T237N	probably benign	Het
Ccnk	C	A	12: 108,159,964 (GRCm39)	Q149K	possibly damaging	Het
Chfr	A	G	5: 110,288,226 (GRCm39)	D47G	probably benign	Het
Chid1	A	T	7: 141,109,401 (GRCm39)		probably null	Het
Cibar2	T	A	8: 120,895,342 (GRCm39)	T187S	possibly damaging	Het
Cmya5	T	A	13: 93,232,208 (GRCm39)	E960V	probably damaging	Het
Col18a1	A	G	10: 76,932,118 (GRCm39)	S112P	unknown	Het
Cps1	G	A	1: 67,210,080 (GRCm39)	V637I	probably damaging	Het
Crispld1	A	G	1: 17,823,102 (GRCm39)	T390A	probably benign	Het
Cyp2c54	A	T	19: 40,058,697 (GRCm39)	L245*	probably null	Het
Ddr2	G	T	1: 169,812,530 (GRCm39)	T654K	probably damaging	Het
Dnah10	T	C	5: 124,868,855 (GRCm39)		probably null	Het
Elavl4	C	T	4: 110,068,622 (GRCm39)		probably null	Het
Emilin1	T	C	5: 31,078,004 (GRCm39)	V921A	probably benign	Het
Evpl	T	A	11: 116,113,939 (GRCm39)	E1250D	probably damaging	Het
Fam228a	C	T	12: 4,782,790 (GRCm39)	G101E	probably benign	Het
Gemin4	T	C	11: 76,102,932 (GRCm39)	T610A	probably damaging	Het
Glis1	T	C	4: 107,292,880 (GRCm39)	M1T	probably null	Het
Gm14399	C	T	2: 174,972,252 (GRCm39)		probably benign	Het
Gorasp2	C	T	2: 70,509,849 (GRCm39)	T170I	probably damaging	Het
Gpr37	A	G	6: 25,669,341 (GRCm39)	V501A	possibly damaging	Het
Grik4	T	A	9: 42,533,356 (GRCm39)	Q388L	probably benign	Het
Hspg2	T	A	4: 137,278,436 (GRCm39)	D3035E	probably damaging	Het
Htr4	A	T	18: 62,545,247 (GRCm39)	N11Y	probably benign	Het
Itgb2l	A	G	16: 96,230,243 (GRCm39)	S356P	probably damaging	Het
Klk1b22	A	G	7: 43,764,173 (GRCm39)	N34D	probably benign	Het
Lmcd1	A	G	6: 112,287,500 (GRCm39)	D62G	possibly damaging	Het
Lrp2	C	T	2: 69,316,696 (GRCm39)	G2095E	probably damaging	Het
Macf1	T	A	4: 123,334,536 (GRCm39)	E4407V	possibly damaging	Het
Mcm5	T	C	8: 75,851,487 (GRCm39)	F631L	probably benign	Het
Mov10l1	A	G	15: 88,878,071 (GRCm39)	S170G	probably benign	Het
Muc5b	A	T	7: 141,411,239 (GRCm39)	D1395V	unknown	Het
Muc6	G	A	7: 141,226,842 (GRCm39)	T1395M	probably benign	Het
Myh15	A	G	16: 48,911,468 (GRCm39)	D300G	probably damaging	Het
Naa80	T	C	9: 107,460,498 (GRCm39)	L131P	probably damaging	Het
Ndst4	A	G	3: 125,231,952 (GRCm39)	T174A	probably benign	Het
Nek5	T	A	8: 22,580,500 (GRCm39)	N406I	probably benign	Het
Nr2c2	G	A	6: 92,136,359 (GRCm39)	V400I	probably damaging	Het
Or1l4	T	C	2: 37,092,092 (GRCm39)	Y280H	probably damaging	Het
Or1l4b	G	T	2: 37,037,021 (GRCm39)	V266L	probably benign	Het
Or51aa2	A	T	7: 103,187,935 (GRCm39)	Y169N	probably benign	Het
Or52m1	T	C	7: 102,290,190 (GRCm39)	S246P	probably damaging	Het
Or6b1	G	A	6: 42,811,330 (GRCm39)		probably null	Het
Or6c5c	T	A	10: 129,298,620 (GRCm39)	I25N	probably damaging	Het
Parn	T	C	16: 13,443,927 (GRCm39)		probably null	Het
Pfkl	T	C	10: 77,827,857 (GRCm39)	T468A	probably damaging	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Plce1	T	C	19: 38,768,340 (GRCm39)	I2205T	possibly damaging	Het
Prss16	A	T	13: 22,187,317 (GRCm39)	N442K	probably damaging	Het
Pus7	A	G	5: 23,957,342 (GRCm39)	S370P	probably damaging	Het
Ripk3	G	T	14: 56,024,741 (GRCm39)	Y210*	probably null	Het
Rps6ka2	C	A	17: 7,539,034 (GRCm39)	F317L	probably damaging	Het
Slc13a3	G	A	2: 165,287,448 (GRCm39)	R169W	possibly damaging	Het
Slc6a21	T	A	7: 44,931,904 (GRCm39)	I256N	possibly damaging	Het
Slc6a9	G	A	4: 117,725,303 (GRCm39)	R589Q	probably benign	Het
Slc8a2	T	C	7: 15,875,077 (GRCm39)	S442P	probably damaging	Het
Snupn	T	A	9: 56,890,028 (GRCm39)	M283K	probably damaging	Het
Steap3	A	T	1: 120,162,087 (GRCm39)	M395K	probably damaging	Het
Sv2b	G	A	7: 74,797,402 (GRCm39)	P331S	probably damaging	Het
Tlr1	A	G	5: 65,084,115 (GRCm39)	V154A	probably benign	Het
Tmem131	A	G	1: 36,835,382 (GRCm39)	S1580P	probably damaging	Het
Tmem51	TCCCC	TCCC	4: 141,764,996 (GRCm39)		probably null	Het
Trav14d-3-dv8	G	A	14: 53,316,218 (GRCm39)	R26H	probably benign	Het
Trp53	C	T	11: 69,482,081 (GRCm39)	L365F	probably benign	Het
Trp53bp1	A	T	2: 121,029,516 (GRCm39)	I1838N	probably damaging	Het
Ugt1a5	A	T	1: 88,094,608 (GRCm39)	K279*	probably null	Het
Unc80	A	G	1: 66,591,368 (GRCm39)	E1141G	possibly damaging	Het
Vti1b	T	C	12: 79,213,153 (GRCm39)	D49G	probably benign	Het
Wnt10a	A	T	1: 74,832,641 (GRCm39)	H78L	possibly damaging	Het
Zfp869	G	A	8: 70,159,128 (GRCm39)	H482Y	probably damaging	Het
Zfyve1	A	G	12: 83,598,314 (GRCm39)	V638A	probably damaging	Het

Other mutations in C8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:C8b	APN	4	104,658,531 (GRCm39)	splice site	probably benign
IGL01145:C8b	APN	4	104,637,777 (GRCm39)	missense	probably benign	0.25
IGL01768:C8b	APN	4	104,644,151 (GRCm39)	missense	probably benign	0.00
IGL02347:C8b	APN	4	104,644,151 (GRCm39)	missense	probably benign	0.00
IGL02488:C8b	APN	4	104,661,278 (GRCm39)	missense	probably benign
IGL02957:C8b	APN	4	104,623,652 (GRCm39)	missense	probably benign
IGL02979:C8b	APN	4	104,631,585 (GRCm39)	missense	probably damaging	0.99
IGL02995:C8b	APN	4	104,658,525 (GRCm39)	splice site	probably benign
IGL03294:C8b	APN	4	104,637,888 (GRCm39)	missense	probably benign	0.06
R0568:C8b	UTSW	4	104,650,577 (GRCm39)	missense	probably benign	0.39
R1015:C8b	UTSW	4	104,644,157 (GRCm39)	missense	probably benign	0.19
R1191:C8b	UTSW	4	104,650,520 (GRCm39)	missense	probably damaging	1.00
R1401:C8b	UTSW	4	104,641,679 (GRCm39)	missense	possibly damaging	0.72
R3824:C8b	UTSW	4	104,640,206 (GRCm39)	missense	probably benign	0.42
R4611:C8b	UTSW	4	104,647,841 (GRCm39)	missense	probably damaging	0.98
R4756:C8b	UTSW	4	104,644,083 (GRCm39)	missense	probably benign
R4845:C8b	UTSW	4	104,649,009 (GRCm39)	missense	possibly damaging	0.87
R5355:C8b	UTSW	4	104,637,860 (GRCm39)	missense	probably benign	0.01
R5436:C8b	UTSW	4	104,657,546 (GRCm39)	nonsense	probably null
R5561:C8b	UTSW	4	104,641,645 (GRCm39)	missense	possibly damaging	0.89
R5967:C8b	UTSW	4	104,650,530 (GRCm39)	missense	possibly damaging	0.79
R6744:C8b	UTSW	4	104,631,543 (GRCm39)	missense	probably damaging	1.00
R6899:C8b	UTSW	4	104,644,071 (GRCm39)	missense	probably benign	0.02
R6977:C8b	UTSW	4	104,644,193 (GRCm39)	missense	possibly damaging	0.82
R7088:C8b	UTSW	4	104,650,540 (GRCm39)	missense	probably benign	0.12
R7224:C8b	UTSW	4	104,637,795 (GRCm39)	missense	probably damaging	1.00
R8058:C8b	UTSW	4	104,647,811 (GRCm39)	missense	probably damaging	0.96
R8437:C8b	UTSW	4	104,644,040 (GRCm39)	missense	probably damaging	1.00
R8821:C8b	UTSW	4	104,647,874 (GRCm39)	missense	probably damaging	1.00
R8831:C8b	UTSW	4	104,647,874 (GRCm39)	missense	probably damaging	1.00
R9139:C8b	UTSW	4	104,641,631 (GRCm39)	missense	probably damaging	1.00
R9237:C8b	UTSW	4	104,650,481 (GRCm39)	missense	probably benign	0.00
R9294:C8b	UTSW	4	104,644,192 (GRCm39)	missense	probably benign	0.04
R9789:C8b	UTSW	4	104,640,191 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGCCAACTGTATGCCTTCC -3'
(R):5'- AGGTTTGTGGTAAGGAATCCTCC -3'

Sequencing Primer
(F):5'- CCAGCATCCACAGCTTGGTTTG -3'
(R):5'- TGCAACCCTGATCTTCATGAAC -3'

Posted On

2019-09-13